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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ALG6 |
 Gene summary |
| Gene information | Gene symbol | ALG6 | Gene ID | 29929 |
| Gene name | ALG6, alpha-1,3-glucosyltransferase | |
| Synonyms | CDG1C | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseMan(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferaseasparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)asparagine-linked glycosylation 6 homolog (yeast | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y672 | |
| Context | PubMed: ALG6 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ALG6 | GO:0006487 | protein N-linked glycosylation | 10924277 |
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Exon skipping events across known transcript of Ensembl for ALG6 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for ALG6 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ALG6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6965 | 1 | 63836441:63836730:63862183:63862268:63867924:63868013 | 63862183:63862268 | ENSG00000088035.11 | ENST00000603108.1,ENST00000371108.4,ENST00000263440.4 |
| exon_skip_6966 | 1 | 63862183:63862268:63867924:63868014:63870123:63870212 | 63867924:63868014 | ENSG00000088035.11 | ENST00000603108.1,ENST00000371108.4,ENST00000263440.4 |
| exon_skip_6971 | 1 | 63879731:63879817:63881543:63881628:63885040:63885111 | 63881543:63881628 | ENSG00000088035.11 | ENST00000371108.4,ENST00000263440.4,ENST00000465969.1 |
| exon_skip_6975 | 1 | 63881543:63881628:63885040:63885111:63894403:63894472 | 63885040:63885111 | ENSG00000088035.11 | ENST00000603108.1,ENST00000371108.4,ENST00000263440.4,ENST00000465969.1 |
| exon_skip_6977 | 1 | 63885064:63885111:63894403:63894472:63894598:63894797 | 63894403:63894472 | ENSG00000088035.11 | ENST00000603108.1,ENST00000462390.1,ENST00000371108.4,ENST00000263440.4,ENST00000465969.1 |
| exon_skip_6980 | 1 | 63894403:63894472:63894598:63894797:63902493:63902804 | 63894598:63894797 | ENSG00000088035.11 | ENST00000603108.1,ENST00000371108.4,ENST00000263440.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALG6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6965 | 1 | 63836441:63836730:63862183:63862268:63867924:63868013 | 63862183:63862268 | ENSG00000088035.11 | ENST00000371108.4,ENST00000603108.1,ENST00000263440.4 |
| exon_skip_6966 | 1 | 63862183:63862268:63867924:63868014:63870123:63870212 | 63867924:63868014 | ENSG00000088035.11 | ENST00000371108.4,ENST00000603108.1,ENST00000263440.4 |
| exon_skip_6971 | 1 | 63879731:63879817:63881543:63881628:63885040:63885111 | 63881543:63881628 | ENSG00000088035.11 | ENST00000371108.4,ENST00000263440.4,ENST00000465969.1 |
| exon_skip_6975 | 1 | 63881543:63881628:63885040:63885111:63894403:63894472 | 63885040:63885111 | ENSG00000088035.11 | ENST00000371108.4,ENST00000603108.1,ENST00000263440.4,ENST00000465969.1 |
| exon_skip_6977 | 1 | 63885064:63885111:63894403:63894472:63894598:63894797 | 63894403:63894472 | ENSG00000088035.11 | ENST00000371108.4,ENST00000603108.1,ENST00000263440.4,ENST00000465969.1,ENST00000462390.1 |
| exon_skip_6980 | 1 | 63894403:63894472:63894598:63894797:63902493:63902804 | 63894598:63894797 | ENSG00000088035.11 | ENST00000371108.4,ENST00000603108.1,ENST00000263440.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ALG6 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263440 | 63862183 | 63862268 | Frame-shift |
| ENST00000371108 | 63862183 | 63862268 | Frame-shift |
| ENST00000263440 | 63881543 | 63881628 | Frame-shift |
| ENST00000371108 | 63881543 | 63881628 | Frame-shift |
| ENST00000263440 | 63885040 | 63885111 | Frame-shift |
| ENST00000371108 | 63885040 | 63885111 | Frame-shift |
| ENST00000263440 | 63894598 | 63894797 | Frame-shift |
| ENST00000371108 | 63894598 | 63894797 | Frame-shift |
| ENST00000263440 | 63867924 | 63868014 | In-frame |
| ENST00000371108 | 63867924 | 63868014 | In-frame |
| ENST00000263440 | 63894403 | 63894472 | In-frame |
| ENST00000371108 | 63894403 | 63894472 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263440 | 63862183 | 63862268 | Frame-shift |
| ENST00000371108 | 63862183 | 63862268 | Frame-shift |
| ENST00000263440 | 63881543 | 63881628 | Frame-shift |
| ENST00000371108 | 63881543 | 63881628 | Frame-shift |
| ENST00000263440 | 63885040 | 63885111 | Frame-shift |
| ENST00000371108 | 63885040 | 63885111 | Frame-shift |
| ENST00000263440 | 63894598 | 63894797 | Frame-shift |
| ENST00000371108 | 63894598 | 63894797 | Frame-shift |
| ENST00000263440 | 63867924 | 63868014 | In-frame |
| ENST00000371108 | 63867924 | 63868014 | In-frame |
| ENST00000263440 | 63894403 | 63894472 | In-frame |
| ENST00000371108 | 63894403 | 63894472 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALG6 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263440 | 1912 | 507 | 63867924 | 63868014 | 376 | 465 | 56 | 85 |
| ENST00000371108 | 3388 | 507 | 63867924 | 63868014 | 473 | 562 | 56 | 85 |
| ENST00000371108 | 3388 | 507 | 63894403 | 63894472 | 1364 | 1432 | 353 | 375 |
| ENST00000263440 | 1912 | 507 | 63894403 | 63894472 | 1273 | 1341 | 355 | 377 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263440 | 1912 | 507 | 63867924 | 63868014 | 376 | 465 | 56 | 85 |
| ENST00000371108 | 3388 | 507 | 63867924 | 63868014 | 473 | 562 | 56 | 85 |
| ENST00000371108 | 3388 | 507 | 63894403 | 63894472 | 1364 | 1432 | 353 | 375 |
| ENST00000263440 | 1912 | 507 | 63894403 | 63894472 | 1273 | 1341 | 355 | 377 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9Y672 | 56 | 85 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 56 | 85 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 353 | 375 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 353 | 375 | 374 | 374 | Sequence conflict | Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y672 | 353 | 375 | 362 | 382 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y672 | 355 | 377 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 355 | 377 | 374 | 374 | Sequence conflict | Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y672 | 355 | 377 | 362 | 382 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9Y672 | 56 | 85 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 56 | 85 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 353 | 375 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 353 | 375 | 374 | 374 | Sequence conflict | Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y672 | 353 | 375 | 362 | 382 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y672 | 355 | 377 | 1 | 507 | Chain | ID=PRO_0000174156;Note=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1%2C3-glucosyltransferase |
| Q9Y672 | 355 | 377 | 374 | 374 | Sequence conflict | Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y672 | 355 | 377 | 362 | 382 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ALG6 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_6966 | 63867925 | 63868014 | 63867973 | 63867973 | Frame_Shift_Del | C | - | p.Y72fs |
| KIRP | TCGA-GL-A59R-01 | exon_skip_6966 | 63867925 | 63868014 | 63868011 | 63868011 | Frame_Shift_Del | A | - | p.Y85fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6971 | 63881544 | 63881628 | 63881557 | 63881557 | Frame_Shift_Del | T | - | p.F306fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_6977 | 63894404 | 63894472 | 63894446 | 63894446 | Frame_Shift_Del | T | - | p.T367fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_6977 | 63894404 | 63894472 | 63894450 | 63894450 | Frame_Shift_Del | T | - | p.F369fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6980 | 63894599 | 63894797 | 63894684 | 63894684 | Frame_Shift_Del | T | - | p.F405fs |
| CESC | TCGA-EA-A3HU-01 | exon_skip_6980 | 63894599 | 63894797 | 63894697 | 63894698 | Frame_Shift_Del | AA | - | p.K412fs |
| CESC | TCGA-BI-A0VR-01 | exon_skip_6977 | 63894404 | 63894472 | 63894433 | 63894434 | Frame_Shift_Ins | - | T | p.L363fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_6980 | 63894599 | 63894797 | 63894714 | 63894714 | Nonsense_Mutation | G | T | p.E415* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_6980 | 63894599 | 63894797 | 63894714 | 63894714 | Nonsense_Mutation | G | T | p.E415X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63862184 | 63862268 | 63862223 | 63862224 | Frame_Shift_Del | AG | - | p.Q41fs |
| SW48_LARGE_INTESTINE | 63894599 | 63894797 | 63894660 | 63894660 | Frame_Shift_Del | T | - | p.F398fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63881544 | 63881628 | 63881555 | 63881555 | Missense_Mutation | C | T | p.T305M |
| SNU81_LARGE_INTESTINE | 63881544 | 63881628 | 63881569 | 63881569 | Missense_Mutation | C | G | p.L310V |
| SNU349_KIDNEY | 63885041 | 63885111 | 63885081 | 63885081 | Missense_Mutation | T | C | p.V343A |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63894404 | 63894472 | 63894412 | 63894412 | Missense_Mutation | G | T | p.C356F |
| SW1353_BONE | 63894599 | 63894797 | 63894706 | 63894706 | Missense_Mutation | C | T | p.S412F |
| JHH7_LIVER | 63894599 | 63894797 | 63894774 | 63894774 | Missense_Mutation | C | G | p.L435V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALG6 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALG6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALG6 |
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RelatedDrugs for ALG6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ALG6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ALG6 | C2930997 | Congenital disorder of glycosylation type 1C | 5 | CTD_human;ORPHANET;UNIPROT |
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